AutismKB 2.0

Annotation Detail for GABRG2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GABRG2 ( CAE2,ECA2,GEFSP3 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, gamma 2
Band: 5q34
Quick LinksEntrez ID:2566; OMIM: 137164; Uniprot ID:GBRG2_HUMAN; ENSEMBL ID: ENSG00000113327; HGNC ID: 4087
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
52N-linked (GlcNAc...) (Potential).
129N-linked (GlcNAc...) (Potential).
247N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
52N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
129N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
247N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
366Phosphoserine (PKC
Location(AA) Modification Resource
11O-linkedHMM predict
14Phosphotyrosine(Abl)HMM predict
16O-linkedHMM predict
20O-linkedHMM predict
42Phosphoserine(CK2)HMM predict
46Phosphotyrosine(INSR)HMM predict
46Phosphotyrosine(Syk)HMM predict
46SulfotyrosineHMM predict
49Phosphotyrosine(Syk)HMM predict
52N-linkedHMM predict
129N-linkedHMM predict
165Phosphothreonine(CDK)HMM predict
165Phosphothreonine(CDC2)HMM predict
209Phosphoserine(CK1)HMM predict
220Phosphotyrosine(SRC)HMM predict
247N-linkedHMM predict
259Phosphotyrosine(INSR)HMM predict
259Phosphotyrosine(Jak)HMM predict
314O-linkedHMM predict
325Phosphoserine(PKG)HMM predict
366Phosphoserine(PKC)HMM predict
393N-linkedHMM predict
404SulfotyrosineHMM predict
406Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000816
  • Location:chr5 161427294-161513628
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 161424607 161425149 542 2417
Nanog ESGSE20650 161412260 161412703 443 14813
Nanog hESGSE18292 161412140 161412585 445 14932
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 161451189 161451365 176 0
NRSF JurkatGSE13047 161427721 161428676 955 0
NRSF JurkatSISSRdata 161427994 161428497 503 0
NRSF mAbJurkat 161425524 161429530 4006 0
NRSF mAbJurkat 161429870 161430266 396 0
NRSF-mono JurkatQuESTdata 161427903 161428641 738 0
NRSF-poly JurkatQuESTdata 161427825 161428526 701 0
Nanog ESGSE20650 161474410 161474872 462 0
Nanog hESGSE18292 161457312 161457563 251 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
21780 mRNA GABRG2 chr5 161427294 161513629 7077 EST chr5 161498324 161505401 Non-exonic Bidirectional (NOB) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018